UBIAD1 (UbiA prenyltransferase domain containing 1)
Gene | |
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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29914 |
Gene name
Gene Name - the full gene name approved by the HGNC.
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UbiA prenyltransferase domain containing 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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UBIAD1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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SCCD, TERE1 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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SCCD |
Chromosome
Chromosome number
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1 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p36.22 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008] |
SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein | |||||||||||
UniProt ID | Q9Y5Z9 | ||||||||||
Protein name | UbiA prenyltransferase domain-containing protein 1 (EC 2.5.1.-) (EC 2.5.1.39) (Transitional epithelial response protein 1) | ||||||||||
Protein function | Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10 (PubMed:20953171, PubMed:23374346). MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothe | ||||||||||
Family and domains |
Pfam
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Tissue specificity | TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11314041}. | ||||||||||
Sequence |
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Sequence length | 338 | ||||||||||
Interactions | View interactions |
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease information provided by ClinVar, GenCC, and GWAS databases.
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